Biomedical Sciences Graduate Program, University of California San Francisco, San Francisco, CA, United States of America.
Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, United States of America.
PLoS Genet. 2018 Jun 18;14(6):e1007387. doi: 10.1371/journal.pgen.1007387. eCollection 2018 Jun.
Natural populations often grow, shrink, and migrate over time. Such demographic processes can affect genome-wide levels of genetic diversity. Additionally, genetic variation in functional regions of the genome can be altered by natural selection, which drives adaptive mutations to higher frequencies or purges deleterious ones. Such selective processes affect not only the sites directly under selection but also nearby neutral variation through genetic linkage via processes referred to as genetic hitchhiking in the context of positive selection and background selection (BGS) in the context of purifying selection. While there is extensive literature examining the consequences of selection at linked sites at demographic equilibrium, less is known about how non-equilibrium demographic processes influence the effects of hitchhiking and BGS. Utilizing a global sample of human whole-genome sequences from the Thousand Genomes Project and extensive simulations, we investigate how non-equilibrium demographic processes magnify and dampen the consequences of selection at linked sites across the human genome. When binning the genome by inferred strength of BGS, we observe that, compared to Africans, non-African populations have experienced larger proportional decreases in neutral genetic diversity in strong BGS regions. We replicate these findings in admixed populations by showing that non-African ancestral components of the genome have also been affected more severely in these regions. We attribute these differences to the strong, sustained/recurrent population bottlenecks that non-Africans experienced as they migrated out of Africa and throughout the globe. Furthermore, we observe a strong correlation between FST and the inferred strength of BGS, suggesting a stronger rate of genetic drift. Forward simulations of human demographic history with a model of BGS support these observations. Our results show that non-equilibrium demography significantly alters the consequences of selection at linked sites and support the need for more work investigating the dynamic process of multiple evolutionary forces operating in concert.
自然种群随时间推移而增长、收缩和迁移。这些人口过程会影响全基因组水平的遗传多样性。此外,基因组功能区域的遗传变异可因自然选择而改变,自然选择会促使适应性突变向更高频率进化,或清除有害突变。这种选择过程不仅影响直接受选择作用的位点,还会通过遗传连锁影响附近的中性变异,这种遗传连锁在正选择的背景下被称为遗传漂变,在净化选择的背景下被称为背景选择(BGS)。尽管有大量文献研究了在人口平衡时连锁位点选择的后果,但人们对非平衡人口过程如何影响漂变和 BGS 的影响知之甚少。利用来自千人基因组计划的全球人类全基因组序列样本和广泛的模拟,我们研究了非平衡人口过程如何放大和减弱连锁位点选择的后果。当按 BGS 推断强度对基因组进行分区时,我们观察到与非洲人相比,非非洲人群在强 BGS 区域中性遗传多样性的比例下降更大。通过显示基因组中非非洲祖先成分在这些区域也受到更严重的影响,我们在混合人群中复制了这些发现。我们将这些差异归因于非非洲人在离开非洲并遍布全球的过程中经历的强烈、持续/反复的人口瓶颈。此外,我们观察到 FST 与 BGS 推断强度之间存在很强的相关性,表明遗传漂变的速率更强。带有 BGS 模型的人类人口历史的正向模拟支持了这些观察结果。我们的研究结果表明,非平衡人口统计学显著改变了连锁位点选择的后果,并支持需要更多工作来研究协同作用的多种进化力量的动态过程。